Immunodeficiency Disorders Quiz
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Questions and Answers

What is the incidence of Common Variable Immunodeficiency (CVID) worldwide?

1:25,000-50,000

What are the genetic mutations associated with Common Variable Immunodeficiency (CVID)?

Mutations in ICOS, CD19, BAFF-R, TNFRSF13B gene sets

What is the main cause of Common Variable Immunodeficiency (CVID) in 90% of cases?

Currently unknown

What is the prevalence of Common Variable Immunodeficiency (CVID) in males compared to females?

<p>Equal</p> Signup and view all the answers

What is the main genetic risk factor associated with Common Variable Immunodeficiency (CVID)?

<p>Cluster of at least 13 variants in specific genes</p> Signup and view all the answers

Which gene mutation affects the B cell survival, maturation, and antibody production in Common Variable Immunodeficiency (CVID)?

<p>TNFRSF13B (TACI) gene mutation</p> Signup and view all the answers

What is an example of a primary immunodeficiency characterized by a combined T- and B-cell defect?

<p>SCID (severe combined immunodeficiency syndrome)</p> Signup and view all the answers

Which gene deficiency is associated with the most common autosomal recessive SCID?

<p>Adenosine deaminase (ADA)</p> Signup and view all the answers

What are the manifestations of SCID in infants?

<p>Life-threatening infections (ear, lung, thrush, chronic diarrhea)</p> Signup and view all the answers

Name a low virulence organism that can cause severe disease in individuals with SCID.

<p>Pneumocystis carinii</p> Signup and view all the answers

What type of genetic mutation in the CD19 gene can lead to B-cell defects?

<p>Multiple mutations</p> Signup and view all the answers

What is the genetic mutation associated with X-linked severe combined immunodeficiency (X-SCID)?

<p>Defects in common gamma chain (ɣc) of cytokine receptors</p> Signup and view all the answers

What is the consequence of defects in genes responsible for V(D)J recombination of T cell receptor and B cell receptor?

<p>T cells and B cells lack diversity in their receptors to recognize and fight pathogens</p> Signup and view all the answers

What syndrome is characterized by defects in genes that allow rearrangement of T cell receptor and B cell receptor?

<p>Omenn Syndrome</p> Signup and view all the answers

In which immunodeficiency disorder are T cells and B cells produced but not functional and limited in number?

<p>Combined T- and B-cell defect (SCID)</p> Signup and view all the answers

What is the main treatment for severe combined immunodeficiency (SCID) in infants?

<p>Hematopoietic stem-cell transplant from closely related sibling</p> Signup and view all the answers

What is the consequence of a mutation in the common gamma chain (ɣc) of cytokine receptors for cytokines?

<p>None of the cytokines can function as there is no receptor to bind</p> Signup and view all the answers

What is the reason for washing the gel extensively in the process of identifying immunoglobulin components?

<p>To remove any non-specifically bound proteins and leave only the immune complexes containing the appropriate immunoglobulin components.</p> Signup and view all the answers

What is the significance of the narrow band or 'M protein' in the electrophoresis of serum proteins?

<p>It indicates the presence of a monoclonal plasma cell disorder.</p> Signup and view all the answers

Which two processes during B cell development increase the risk of malignant transformation?

<p>V(D)J recombination and somatic hypermutation.</p> Signup and view all the answers

Why are B cell malignancies more common than T cell malignancies?

<p>Because B cells undergo V(D)J recombination and somatic hypermutation, which increase the risk of malignant transformation.</p> Signup and view all the answers

What is the significance of class switch recombination in B cells?

<p>It can lead to incorrect recombination, increasing the risk of malignant transformation.</p> Signup and view all the answers

Why do mature B cells divide in secondary lymphoid tissue?

<p>To allow for the proliferation of antigen-activated B cells and the formation of antibodies.</p> Signup and view all the answers

Explain one mechanism by which cancer cells avoid immune attack.

<p>Down regulation of MHC class I molecules</p> Signup and view all the answers

Describe the role of NK cells in avoiding immune attack by cancer cells.

<p>When dendritic cells present tumor antigens, they induce T cell toleration due to lack of co-stimulatory signals.</p> Signup and view all the answers

How do cancer cells create a physical barrier to immune cells?

<p>By producing collagen that forms tumor nests</p> Signup and view all the answers

Explain the concept of antigenic modulation in immune evasion by cancer cells.

<p>It refers to the lack of immunogenic antigens being expressed by cancer cells.</p> Signup and view all the answers

Discuss the relationship between chronic inflammation and cancer risk.

<p>Chronic inflammation increases the risk of cancer.</p> Signup and view all the answers

Explain the significance of immune surveillance in cancer prevention.

<p>The immune system plays an important role in preventing cancer through immune surveillance.</p> Signup and view all the answers

Explain how cancer cells evade the immune system using the PD-L1/PD-1 pathway.

<p>Cancer cells express PD-L1, which interacts with PD-1 on T cells, leading to immune evasion by inhibiting T cell function.</p> Signup and view all the answers

Describe the role of immune checkpoint proteins CTLA-4 and PD-1 in cancer immunotherapy.

<p>CTLA-4 and PD-1 are targets for immune checkpoint blockade therapy, which aims to unleash anticancer T cell responses.</p> Signup and view all the answers

How do cancer cells utilize TGF-β, IL-10, and IDO to inhibit T cells?

<p>Cancer cells secrete TGF-β, IL-10, and IDO to create an immunosuppressive microenvironment that inhibits T cell function.</p> Signup and view all the answers

Explain the mechanism of immune checkpoint blockade therapy in cancer treatment.

<p>Immune checkpoint blockade therapy involves using antibodies against proteins like CTLA-4, PD-1, and PD-L1 to unleash and enhance T cell responses against cancer cells.</p> Signup and view all the answers

How does adoptive cellular therapy contribute to cancer treatment?

<p>Adoptive cellular therapy involves genetically modifying T cells to create CAR T cells that can target specific proteins on cancer cells, enhancing the host immune response against cancer.</p> Signup and view all the answers

What is the significance of immune surveillance in cancer development?

<p>Immunosurveillance plays a crucial role in detecting and eliminating cancer cells before they develop into tumors, helping to prevent cancer progression.</p> Signup and view all the answers

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